Table 2 Pathogenic and likely-pathogenic variants
Patient ID | Gene | Chromosomal location (GRCh37) | Nucleotide change | Amino acid change | Ref sequence Protein region | Mutation type | Allele frequency | ACMG criteria/pathogenicity | References |
|---|---|---|---|---|---|---|---|---|---|
1 | TTN | Chr2:179,444,906–179,444,907 | c.62184_62185delCT | p. Asp20728fs | NM_001256850.1: exon268, A-band | Frameshift (truncating) | – | PVS + PM2; LP | None |
5 | TTN | Chr2:179,486,443 | c.40185delT | p.Asn13395fs*11 | NM_001256850.1: exon195, I-band | Frameshift (truncating) | – | PVS + PM2; LP | None |
7 | TTN | Chr2:179,425,091 | c.80845C > T | p.Arg26949* | NM_001256850.1: exon276, A-band | Nonsense (truncating) | 8E-06 | PVS + PM2; LP | rs748689777 |
9 | RBM20 | Chr10:112,572,067 | c.1912C > T | p.Pro638Ser | NM_001134363 exon9 | Missense | – | PM1 + PM2 + PM5 + PM6 + PP3; LP | None |
10 | TTN | Chr2:179,486,346 | c.40282G > T | p.Glu13428* | NM_001256850.1: exon195; I-band | Nonsense (truncating) | – | PVS + PM2; LP | None |
15 | TTN | Chr2:179,470,153 | c.48946C > T | p.Gln16316* | NM_001256850.1: exon229, A-band | Nonsense (truncating) | – | PVS + PM2; LP | None |
18 | TTN | Chr2:179,466,820 | c.50255delG | p.Gly16752Ala fs*30 | NM_001256850.1 exon234, A-band | Frameshift (truncating) | – | PVS + PM2; LP | None |
22 | FLNC | Chr7:128,483,501 | c.2681delC | p.Lys895Arg fs*27 | NM_001127487 exon18 | Frameshift (truncating) | – | PVS + PM2; LP | None |
23 | TNNT2 | Chr1:201,331,099–201,331,101 | c.650_652delAGA | p.Lys217del | NM_000364 exon13 | Deletion | – | PS3 + PM1 + PM2 + PM4; P | rs45578238 |
24 | TTN | Chr2:179,425,848–179,425,851 | c.80085_80088delTAGT | p.Glu26697His fs*9 | NM_001256850.1 exon276, A-band | Frameshift (truncating) | – | PVS + PM2; LP | None |